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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spondylocostal dysostosis 5
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Accession:DOID:0112363 term browser browse the term
Definition:A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: SCDO5;   TACS;   TBX6-RELATED CONDITION;   TBX6-associated congenital scoliosis;   congenital scoliosis with or without rib anomalies;   spondylothoracic dysostosis
 related_synonym: SPONDYLOCOSTAL DYSPLASIA
 alt_id: DOID:9005408
 xref: MIM:122600;   MONDO:0007389


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spondylocostal dysostosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,077,241...18,083,053 JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217 		JBrowse link
G C6H16orf54 chromosome 6 C16orf54 homolog ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,811,506...17,815,122
Ensembl chr 6:17,812,667...17,853,083 		JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386 		JBrowse link
G LOC102157295 atherin ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES ClinVar PMID:25741868 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,757,581...52,759,987
Ensembl chr 3:52,756,836...52,760,004 		JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr12:44,144,821...44,168,236 JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738 		JBrowse link
G SPN sialophorin ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,770,303...17,774,946 JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition OMIM
ClinVar		 PMID:20503311 PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 More... NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068 		JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 6:17,840,430...17,842,008
Ensembl chr 6:17,839,553...17,842,006 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    Developmental Disease 13756
      bone development disease 2355
        dysostosis 635
          spondylocostal dysostosis 35
            spondylocostal dysostosis 5 30
Path 2
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      musculoskeletal system disease 7924
        connective tissue disease 5433
          bone disease 3916
            bone development disease 2355
              dysostosis 635
                spondylocostal dysostosis 35
                  spondylocostal dysostosis 5 30
paths to the root